NM_004817.4(TJP2):c.239+19T>C
|
rs2498417
|
0.90366
|
NM_004817.4(TJP2):c.61-7456A>G
|
rs2498440
|
0.88915
|
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu)
|
rs2309428
|
0.77489
|
NM_004817.4(TJP2):c.2356-84C>G
|
rs2993823
|
0.64834
|
NM_004817.4(TJP2):c.*183G>A
|
rs3812536
|
0.42169
|
NM_004817.4(TJP2):c.115-229C>A
|
rs3750549
|
0.41595
|
NM_004817.4(TJP2):c.2992-19G>A
|
rs2282335
|
0.39706
|
NM_004817.4(TJP2):c.114+101T>C
|
rs34883177
|
0.38176
|
NM_004817.4(TJP2):c.2356-126C>G
|
rs10867196
|
0.28953
|
NM_004817.4(TJP2):c.1991+54A>G
|
rs2275430
|
0.27500
|
NM_004817.4(TJP2):c.1781-91G>A
|
rs2275431
|
0.26234
|
NM_004817.4(TJP2):c.2566+207A>G
|
rs41312176
|
0.24930
|
NM_004817.4(TJP2):c.2715C>T (p.Thr905=)
|
rs2282336
|
0.22650
|
NM_004817.4(TJP2):c.2727G>A (p.Ala909=)
|
rs2095876
|
0.22643
|
NM_004817.4(TJP2):c.2180-34G>A
|
rs2309421
|
0.22518
|
NM_004817.4(TJP2):c.1991+261G>A
|
rs9410796
|
0.19981
|
NM_004817.4(TJP2):c.1056+73C>A
|
rs17062682
|
0.18658
|
NM_004817.4(TJP2):c.2668-271A>T
|
rs34992883
|
0.12139
|
NM_004817.4(TJP2):c.1211-290C>T
|
rs11137588
|
0.11007
|
NM_004817.4(TJP2):c.382C>A (p.Gln128Lys)
|
rs41305539
|
0.10827
|
NM_004817.4(TJP2):c.239+173dup
|
rs139444591
|
0.10292
|
NM_004817.4(TJP2):c.1672-20C>G
|
rs80014470
|
0.09453
|
NM_004817.4(TJP2):c.1454-193dup
|
rs147262838
|
0.08976
|
NM_004817.4(TJP2):c.1211-302A>T
|
rs17411479
|
0.08855
|
NM_004817.4(TJP2):c.1137A>G (p.Leu379=)
|
rs17062695
|
0.08425
|
NM_004817.4(TJP2):c.953-295G>C
|
rs12341832
|
0.07713
|
NM_004817.4(TJP2):c.1991+117C>T
|
rs41316486
|
0.07474
|
NM_004817.4(TJP2):c.952+160T>C
|
rs139832825
|
0.07340
|
NM_004817.4(TJP2):c.2880+95A>G
|
rs77236826
|
0.07154
|
NM_004817.4(TJP2):c.2880+223C>T
|
rs11793527
|
0.07143
|
NM_004817.4(TJP2):c.115-94T>G
|
rs72709078
|
0.07139
|
NM_004817.4(TJP2):c.1056+155A>T
|
rs12683448
|
0.06861
|
NM_004817.4(TJP2):c.1780+55A>T
|
rs78681248
|
0.06056
|
NM_004817.4(TJP2):c.3029C>T (p.Ser1010Phe)
|
rs41277907
|
0.05575
|
NM_004817.4(TJP2):c.3407+45A>G
|
rs41277913
|
0.04978
|
NM_004817.4(TJP2):c.2992-116G>A
|
rs117794991
|
0.04729
|
NM_004817.4(TJP2):c.2179+152A>G
|
rs12553945
|
0.04707
|
NM_004817.4(TJP2):c.2004G>A (p.Met668Ile)
|
rs34774441
|
0.04571
|
NM_004817.4(TJP2):c.61-7316G>A
|
rs4493966
|
0.04221
|
NM_004817.4(TJP2):c.2275+16T>G
|
rs73450890
|
0.04139
|
NM_004817.4(TJP2):c.2667+139A>G
|
rs74523274
|
0.04124
|
NM_004817.4(TJP2):c.342+102C>T
|
rs78266220
|
0.03536
|
NM_004817.4(TJP2):c.1780+78G>C
|
rs78326540
|
0.03404
|
NM_004817.4(TJP2):c.2180-47C>T
|
rs73450889
|
0.02835
|
NM_004817.4(TJP2):c.1781-115G>A
|
rs73450886
|
0.02810
|
NM_004817.4(TJP2):c.3408-99C>T
|
rs7019775
|
0.02668
|
NM_004817.4(TJP2):c.2131T>C (p.Ser711Pro)
|
rs35797487
|
0.02532
|
NM_004817.4(TJP2):c.1350C>T (p.Ser450=)
|
rs17062723
|
0.02463
|
NM_004817.4(TJP2):c.2276-161G>C
|
rs75392135
|
0.02399
|
NM_004817.4(TJP2):c.2567-342C>T
|
rs72709091
|
0.02150
|
NM_004817.4(TJP2):c.342+12G>T
|
rs7027812
|
0.01934
|
NM_004817.4(TJP2):c.61-7692T>C
|
rs73649624
|
0.01917
|
NM_004817.4(TJP2):c.1781-188A>G
|
rs112646831
|
0.01728
|
NM_004817.4(TJP2):c.1672-295A>G
|
rs145846322
|
0.01719
|
NM_004817.4(TJP2):c.2356-229G>A
|
rs113153370
|
0.01546
|
NM_004817.4(TJP2):c.952+319G>A
|
rs7867725
|
0.01534
|
NM_004817.4(TJP2):c.2668-30C>T
|
rs113671582
|
0.01353
|
NM_004817.4(TJP2):c.1917C>T (p.Asp639=)
|
rs12340440
|
0.01348
|
NM_004817.4(TJP2):c.2646G>A (p.Ala882=)
|
rs11788754
|
0.01323
|
NM_004817.4(TJP2):c.2668-249G>A
|
rs11789323
|
0.01321
|
NM_004817.4(TJP2):c.2778C>T (p.Asp926=)
|
rs140442228
|
0.01321
|
NM_004817.4(TJP2):c.1478G>A (p.Arg493Lys)
|
rs41277901
|
0.01317
|
NM_004817.4(TJP2):c.2668-90C>T
|
rs117754658
|
0.01315
|
NM_004817.4(TJP2):c.3407+33C>T
|
rs41277911
|
0.01302
|
NM_004817.4(TJP2):c.2367A>G (p.Ala789=)
|
rs75668442
|
0.01213
|
NM_004817.4(TJP2):c.952+39A>G
|
rs11137566
|
0.01090
|
NM_004817.4(TJP2):c.343-117T>C
|
rs7853480
|
0.01027
|
NM_004817.4(TJP2):c.61-6929A>G
|
rs114628921
|
0.01016
|
NM_001170414.2(TJP2):c.-10+22063G>A
|
rs12340435
|
0.01014
|
NM_004817.4(TJP2):c.297G>A (p.Ser99=)
|
rs72709079
|
0.00975
|
NM_004817.4(TJP2):c.3495G>A (p.Glu1165=)
|
rs111595785
|
0.00843
|
NM_004817.4(TJP2):c.2810T>C (p.Leu937Pro)
|
rs28556975
|
0.00841
|
NM_004817.4(TJP2):c.2137A>G (p.Ser713Gly)
|
rs116545275
|
0.00763
|
NM_004817.4(TJP2):c.1056+167T>C
|
rs73649627
|
0.00704
|
NM_004817.4(TJP2):c.1520+184G>A
|
rs73649628
|
0.00704
|
NM_004817.4(TJP2):c.2276-171G>A
|
rs181386193
|
0.00699
|
NM_004817.4(TJP2):c.1091C>T (p.Thr364Met)
|
rs77321498
|
0.00629
|
NM_004817.4(TJP2):c.61-6972G>C
|
rs141726498
|
0.00576
|
NM_004817.4(TJP2):c.61-7344G>C
|
rs73450853
|
0.00547
|
NM_004817.4(TJP2):c.61-301T>C
|
rs111648575
|
0.00539
|
NM_004817.4(TJP2):c.-26G>A
|
rs147729271
|
0.00504
|
NM_004817.4(TJP2):c.2668-89G>A
|
rs78728942
|
0.00440
|
NM_004817.4(TJP2):c.1780+318C>T
|
rs75342415
|
0.00405
|
NM_004817.4(TJP2):c.1671+110C>G
|
rs75980642
|
0.00382
|
NM_004817.4(TJP2):c.1063G>C (p.Gly355Arg)
|
rs78681604
|
0.00381
|
NM_004817.4(TJP2):c.2667+29G>C
|
rs112883125
|
0.00381
|
NM_004817.4(TJP2):c.3407+22C>G
|
rs78327988
|
0.00351
|
NM_004817.4(TJP2):c.1210+243T>C
|
rs191814350
|
0.00346
|
NM_004817.4(TJP2):c.2040G>A (p.Gly680=)
|
rs111723895
|
0.00330
|
NM_004817.4(TJP2):c.2992-8C>T
|
rs143965233
|
0.00327
|
NM_004817.4(TJP2):c.644G>A (p.Arg215His)
|
rs201977617
|
0.00322
|
NM_004817.4(TJP2):c.952+52T>C
|
rs183291194
|
0.00321
|
NM_004817.4(TJP2):c.342+111C>T
|
rs148364966
|
0.00319
|
NM_004817.4(TJP2):c.-16G>T
|
rs199557806
|
0.00310
|
NM_004817.4(TJP2):c.240-231C>T
|
rs191289272
|
0.00292
|
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)
|
rs75450131
|
0.00273
|
NM_001170414.2(TJP2):c.-10G>A
|
rs374563251
|
0.00240
|
NM_004817.4(TJP2):c.2356-49A>G
|
rs80159786
|
0.00221
|
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln)
|
rs150883816
|
0.00211
|
NM_004817.4(TJP2):c.1671+181A>G
|
rs3750550
|
0.00190
|
NM_004817.4(TJP2):c.2691C>T (p.Pro897=)
|
rs149969431
|
0.00180
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
NM_004817.4(TJP2):c.239+16C>T
|
rs190537310
|
0.00158
|
NM_004817.4(TJP2):c.3342T>C (p.His1114=)
|
rs61753629
|
0.00157
|
NM_004817.4(TJP2):c.1781-16T>C
|
rs59088021
|
0.00145
|
NM_004817.4(TJP2):c.61-6A>T
|
rs200415824
|
0.00145
|
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser)
|
rs149911553
|
0.00110
|
NM_004817.4(TJP2):c.1057-17A>G
|
rs41277895
|
0.00093
|
NM_004817.4(TJP2):c.143T>C (p.Val48Ala)
|
rs121918299
|
0.00053
|
NM_004817.4(TJP2):c.981C>A (p.Ile327=)
|
rs147139671
|
0.00052
|
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu)
|
rs199641113
|
0.00048
|
NM_004817.4(TJP2):c.1018A>G (p.Lys340Glu)
|
rs763206171
|
0.00046
|
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)
|
rs149659876
|
0.00044
|
NM_004817.4(TJP2):c.2880+19C>T
|
rs200384355
|
0.00044
|
NM_004817.4(TJP2):c.918C>T (p.Ile306=)
|
rs374523970
|
0.00041
|
NM_004817.4(TJP2):c.2668-34G>A
|
rs140714085
|
0.00037
|
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)
|
rs199761505
|
0.00034
|
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met)
|
rs376663560
|
0.00033
|
NM_004817.4(TJP2):c.3160A>G (p.Thr1054Ala)
|
rs57728054
|
0.00031
|
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)
|
rs199767035
|
0.00029
|
NM_004817.4(TJP2):c.61-7341A>G
|
rs151117327
|
0.00029
|
NM_004817.4(TJP2):c.2726C>T (p.Ala909Val)
|
rs146761713
|
0.00028
|
NM_004817.4(TJP2):c.61-7416G>A
|
rs117931408
|
0.00028
|
NM_004817.4(TJP2):c.2880+136G>C
|
rs372958385
|
0.00024
|
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu)
|
rs199892018
|
0.00024
|
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr)
|
rs139276234
|
0.00022
|
NM_004817.4(TJP2):c.2384C>T (p.Pro795Leu)
|
rs139867659
|
0.00019
|
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=)
|
rs141675065
|
0.00019
|
NM_004817.4(TJP2):c.2277A>C (p.Lys759Asn)
|
rs144429323
|
0.00018
|
NM_004817.4(TJP2):c.2852G>A (p.Arg951His)
|
rs368776552
|
0.00018
|
NM_004817.4(TJP2):c.2129T>C (p.Val710Ala)
|
rs150440380
|
0.00017
|
NM_004817.4(TJP2):c.705G>T (p.Arg235=)
|
rs750625862
|
0.00017
|
NM_004817.4(TJP2):c.1473C>A (p.Ala491=)
|
rs138509345
|
0.00015
|
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met)
|
rs139636763
|
0.00015
|
NM_004817.4(TJP2):c.3407+7G>A
|
rs369322645
|
0.00015
|
NM_004817.4(TJP2):c.1818G>A (p.Ser606=)
|
rs527789195
|
0.00014
|
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu)
|
rs201366118
|
0.00014
|
NM_004817.4(TJP2):c.375C>T (p.Ala125=)
|
rs181450555
|
0.00014
|
NM_004817.4(TJP2):c.887G>A (p.Ser296Asn)
|
rs376434139
|
0.00014
|
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=)
|
rs367977493
|
0.00013
|
NM_004817.4(TJP2):c.3140G>C (p.Arg1047Pro)
|
rs191327525
|
0.00013
|
NM_004817.4(TJP2):c.61-7319G>C
|
rs371868876
|
0.00013
|
NM_004817.4(TJP2):c.1656A>G (p.Gly552=)
|
rs150723764
|
0.00012
|
NM_004817.4(TJP2):c.2335G>A (p.Val779Met)
|
rs145368713
|
0.00012
|
NM_004817.4(TJP2):c.2864C>T (p.Pro955Leu)
|
rs769636686
|
0.00012
|
NM_004817.4(TJP2):c.2937C>T (p.Ser979=)
|
rs138333815
|
0.00012
|
NM_004817.4(TJP2):c.1506T>C (p.Asp502=)
|
rs139354927
|
0.00011
|
NM_004817.4(TJP2):c.2270C>T (p.Thr757Ile)
|
rs189443180
|
0.00011
|
NM_004817.4(TJP2):c.2909G>A (p.Arg970Gln)
|
rs150494393
|
0.00011
|
NM_004817.4(TJP2):c.577C>T (p.Arg193Trp)
|
rs200390074
|
0.00011
|
NM_004817.4(TJP2):c.788G>A (p.Arg263Gln)
|
rs368849809
|
0.00011
|
NM_004817.4(TJP2):c.2880+72G>A
|
rs397516632
|
0.00010
|
NM_004817.4(TJP2):c.2961G>A (p.Pro987=)
|
rs371617466
|
0.00010
|
NM_004817.4(TJP2):c.3071G>A (p.Gly1024Asp)
|
rs138564703
|
0.00010
|
NM_004817.4(TJP2):c.334G>A (p.Ala112Thr)
|
rs144396411
|
0.00010
|
NM_004817.4(TJP2):c.1005G>A (p.Thr335=)
|
rs140444730
|
0.00009
|
NM_004817.4(TJP2):c.1597A>T (p.Ile533Leu)
|
rs770295068
|
0.00009
|
NM_004817.4(TJP2):c.1953G>T (p.Gly651=)
|
rs750134026
|
0.00009
|
NM_004817.4(TJP2):c.2567-12A>G
|
rs761461587
|
0.00009
|
NM_004817.4(TJP2):c.2859G>T (p.Ser953=)
|
rs369972534
|
0.00009
|
NM_004817.4(TJP2):c.985G>A (p.Val329Ile)
|
rs140340673
|
0.00009
|
NM_004817.4(TJP2):c.2970A>G (p.Ala990=)
|
rs727503481
|
0.00008
|
NM_004817.4(TJP2):c.638G>T (p.Arg213Leu)
|
rs775377668
|
0.00008
|
NM_004817.4(TJP2):c.2034C>T (p.Asn678=)
|
rs373160031
|
0.00007
|
NM_004817.4(TJP2):c.212C>T (p.Pro71Leu)
|
rs142847960
|
0.00007
|
NM_004817.4(TJP2):c.2279C>T (p.Thr760Met)
|
rs370850127
|
0.00007
|
NM_004817.4(TJP2):c.23G>C (p.Gly8Ala)
|
rs373291069
|
0.00007
|
NM_004817.4(TJP2):c.3407+3A>G
|
rs727505291
|
0.00007
|
NM_004817.4(TJP2):c.37C>T (p.Arg13Trp)
|
rs141127141
|
0.00007
|
NM_004817.4(TJP2):c.1035C>T (p.His345=)
|
rs144213955
|
0.00006
|
NM_004817.4(TJP2):c.1056+15G>A
|
rs369589888
|
0.00006
|
NM_004817.4(TJP2):c.1320-19C>T
|
rs199943912
|
0.00006
|
NM_004817.4(TJP2):c.2334C>T (p.Thr778=)
|
rs183285809
|
0.00006
|
NM_004817.4(TJP2):c.2858C>T (p.Ser953Leu)
|
rs377218278
|
0.00006
|
NM_004817.4(TJP2):c.2880+17C>T
|
rs778212657
|
0.00006
|
NM_004817.4(TJP2):c.2884A>G (p.Ile962Val)
|
rs199704587
|
0.00006
|
NM_004817.4(TJP2):c.61-7293C>G
|
rs566121116
|
0.00006
|
NM_004817.4(TJP2):c.64C>G (p.Pro22Ala)
|
rs541933921
|
0.00006
|
NM_004817.4(TJP2):c.919G>A (p.Gly307Arg)
|
rs755673431
|
0.00006
|
NM_004817.4(TJP2):c.-5C>T
|
rs1021636166
|
0.00005
|
NM_004817.4(TJP2):c.1336C>A (p.Pro446Thr)
|
rs141175414
|
0.00005
|
NM_004817.4(TJP2):c.3225C>T (p.Pro1075=)
|
rs146241989
|
0.00005
|
NM_004817.4(TJP2):c.3322A>G (p.Ile1108Val)
|
rs201835299
|
0.00005
|
NM_004817.4(TJP2):c.3500G>T (p.Arg1167Leu)
|
rs370985421
|
0.00005
|
NM_004817.4(TJP2):c.911G>A (p.Gly304Glu)
|
rs200222645
|
0.00005
|
NM_004817.4(TJP2):c.1197C>T (p.Asp399=)
|
rs760089916
|
0.00004
|
NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser)
|
rs746223152
|
0.00004
|
NM_004817.4(TJP2):c.1629G>A (p.Ser543=)
|
rs771239031
|
0.00004
|
NM_004817.4(TJP2):c.1631C>T (p.Ala544Val)
|
rs142684074
|
0.00004
|
NM_004817.4(TJP2):c.1908A>C (p.Thr636=)
|
rs747037912
|
0.00004
|
NM_004817.4(TJP2):c.19C>T (p.Arg7Cys)
|
rs886044200
|
0.00004
|
NM_004817.4(TJP2):c.2044C>T (p.Arg682Trp)
|
rs760622082
|
0.00004
|
NM_004817.4(TJP2):c.2751C>T (p.Arg917=)
|
rs184519036
|
0.00004
|
NM_004817.4(TJP2):c.3115G>A (p.Val1039Ile)
|
rs774645374
|
0.00004
|
NM_004817.4(TJP2):c.3183T>G (p.Gly1061=)
|
rs749387422
|
0.00004
|
NM_004817.4(TJP2):c.848G>A (p.Arg283Gln)
|
rs748102718
|
0.00004
|
NM_004817.4(TJP2):c.904C>T (p.Arg302Trp)
|
rs397516631
|
0.00004
|
NM_004817.4(TJP2):c.1087T>C (p.Leu363=)
|
rs1051910552
|
0.00003
|
NM_004817.4(TJP2):c.1211-4C>T
|
rs1051968602
|
0.00003
|
NM_004817.4(TJP2):c.1475C>T (p.Pro492Leu)
|
rs200531230
|
0.00003
|
NM_004817.4(TJP2):c.1771C>T (p.Arg591Ter)
|
rs764379398
|
0.00003
|
NM_004817.4(TJP2):c.1817C>T (p.Ser606Leu)
|
rs776993361
|
0.00003
|
NM_004817.4(TJP2):c.190A>G (p.Ile64Val)
|
rs1400260492
|
0.00003
|
NM_004817.4(TJP2):c.1967A>G (p.Lys656Arg)
|
rs754878810
|
0.00003
|
NM_004817.4(TJP2):c.1995T>A (p.Ala665=)
|
rs146741666
|
0.00003
|
NM_004817.4(TJP2):c.2457A>G (p.Gln819=)
|
rs988720358
|
0.00003
|
NM_004817.4(TJP2):c.2493G>A (p.Thr831=)
|
rs944668173
|
0.00003
|
NM_004817.4(TJP2):c.2708A>C (p.Tyr903Ser)
|
rs775354216
|
0.00003
|
NM_004817.4(TJP2):c.2749C>T (p.Arg917Cys)
|
rs1219019246
|
0.00003
|
NM_004817.4(TJP2):c.2750G>A (p.Arg917His)
|
rs751606391
|
0.00003
|
NM_004817.4(TJP2):c.2824G>A (p.Glu942Lys)
|
rs766312893
|
0.00003
|
NM_004817.4(TJP2):c.2880+8G>A
|
rs756700057
|
0.00003
|
NM_004817.4(TJP2):c.2943A>C (p.Gln981His)
|
rs112917902
|
0.00003
|
NM_004817.4(TJP2):c.2987C>T (p.Pro996Leu)
|
rs727504634
|
0.00003
|
NM_004817.4(TJP2):c.2992-11G>T
|
rs747169971
|
0.00003
|
NM_004817.4(TJP2):c.3064G>A (p.Val1022Ile)
|
rs779787233
|
0.00003
|
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=)
|
rs771190188
|
0.00003
|
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln)
|
rs201144827
|
0.00003
|
NM_004817.4(TJP2):c.428T>C (p.Met143Thr)
|
rs1011824757
|
0.00003
|
NM_004817.4(TJP2):c.61-7A>G
|
rs755087942
|
0.00003
|
NM_004817.4(TJP2):c.655C>T (p.Arg219Trp)
|
rs750631073
|
0.00003
|
NM_004817.4(TJP2):c.877C>T (p.Arg293Trp)
|
rs189916909
|
0.00003
|
NM_004817.4(TJP2):c.964C>T (p.Arg322Trp)
|
rs759484247
|
0.00003
|
NM_004817.4(TJP2):c.1027A>G (p.Asn343Asp)
|
rs538420656
|
0.00002
|
NM_004817.4(TJP2):c.1053C>T (p.Leu351=)
|
rs1056969112
|
0.00002
|
NM_004817.4(TJP2):c.1557C>T (p.Asp519=)
|
rs1461192304
|
0.00002
|
NM_004817.4(TJP2):c.1826T>C (p.Ile609Thr)
|
rs929371716
|
0.00002
|
NM_004817.4(TJP2):c.213G>A (p.Pro71=)
|
rs780781603
|
0.00002
|
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser)
|
rs139314808
|
0.00002
|
NM_004817.4(TJP2):c.2774C>T (p.Thr925Met)
|
rs774198938
|
0.00002
|
NM_004817.4(TJP2):c.2775G>A (p.Thr925=)
|
rs374453976
|
0.00002
|
NM_004817.4(TJP2):c.2832G>A (p.Pro944=)
|
rs191634088
|
0.00002
|
NM_004817.4(TJP2):c.2840C>T (p.Ser947Leu)
|
rs756610227
|
0.00002
|
NM_004817.4(TJP2):c.2851C>T (p.Arg951Cys)
|
rs771756670
|
0.00002
|
NM_004817.4(TJP2):c.2863C>A (p.Pro955Thr)
|
rs1034527835
|
0.00002
|
NM_004817.4(TJP2):c.2880+40G>A
|
rs977437125
|
0.00002
|
NM_004817.4(TJP2):c.3484G>A (p.Glu1162Lys)
|
rs769695480
|
0.00002
|
NM_004817.4(TJP2):c.491A>G (p.His164Arg)
|
rs749563094
|
0.00002
|
NM_004817.4(TJP2):c.630G>A (p.Ala210=)
|
rs1004298993
|
0.00002
|
NM_004817.4(TJP2):c.631C>T (p.Arg211Cys)
|
rs771622774
|
0.00002
|
NM_004817.4(TJP2):c.821G>A (p.Arg274His)
|
rs754080705
|
0.00002
|
NM_004817.4(TJP2):c.972G>T (p.Gly324=)
|
rs372333417
|
0.00002
|
NM_004817.4(TJP2):c.1004C>T (p.Thr335Met)
|
rs548602675
|
0.00001
|
NM_004817.4(TJP2):c.1028A>G (p.Asn343Ser)
|
rs763855572
|
0.00001
|
NM_004817.4(TJP2):c.1056+2T>C
|
rs1278244243
|
0.00001
|
NM_004817.4(TJP2):c.1056+8G>C
|
rs779964139
|
0.00001
|
NM_004817.4(TJP2):c.1093G>A (p.Asp365Asn)
|
rs772718854
|
0.00001
|
NM_004817.4(TJP2):c.1100G>A (p.Arg367Gln)
|
rs766299633
|
0.00001
|
NM_004817.4(TJP2):c.1138G>C (p.Val380Leu)
|
rs1439005015
|
0.00001
|
NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn)
|
rs1060499649
|
0.00001
|
NM_004817.4(TJP2):c.1235G>A (p.Arg412Gln)
|
rs748959984
|
0.00001
|
NM_004817.4(TJP2):c.1490G>A (p.Arg497His)
|
rs532438219
|
0.00001
|
NM_004817.4(TJP2):c.1561G>A (p.Val521Met)
|
rs765095120
|
0.00001
|
NM_004817.4(TJP2):c.1571G>A (p.Arg524Gln)
|
rs758151558
|
0.00001
|
NM_004817.4(TJP2):c.1594G>A (p.Gly532Arg)
|
rs748191387
|
0.00001
|
NM_004817.4(TJP2):c.1665T>C (p.Ile555=)
|
rs1312263380
|
0.00001
|
NM_004817.4(TJP2):c.1780+11T>C
|
rs758833025
|
0.00001
|
NM_004817.4(TJP2):c.1884G>A (p.Gly628=)
|
rs1327034450
|
0.00001
|
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter)
|
rs928915940
|
0.00001
|
NM_004817.4(TJP2):c.1918G>A (p.Gly640Ser)
|
rs747962817
|
0.00001
|
NM_004817.4(TJP2):c.1960T>C (p.Leu654=)
|
rs765975804
|
0.00001
|
NM_004817.4(TJP2):c.215G>C (p.Gly72Ala)
|
rs747848974
|
0.00001
|
NM_004817.4(TJP2):c.2164G>A (p.Val722Ile)
|
rs755062873
|
0.00001
|
NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter)
|
rs748671901
|
0.00001
|
NM_004817.4(TJP2):c.2239T>C (p.Leu747=)
|
rs886043789
|
0.00001
|
NM_004817.4(TJP2):c.2297G>T (p.Gly766Val)
|
rs1272933589
|
0.00001
|
NM_004817.4(TJP2):c.2372T>C (p.Leu791Pro)
|
rs1563950539
|
0.00001
|
NM_004817.4(TJP2):c.2546del (p.Thr849fs)
|
rs1309543056
|
0.00001
|
NM_004817.4(TJP2):c.2566G>A (p.Ala856Thr)
|
rs1375944578
|
0.00001
|
NM_004817.4(TJP2):c.2769A>G (p.Glu923=)
|
rs770661556
|
0.00001
|
NM_004817.4(TJP2):c.2841G>A (p.Ser947=)
|
rs778692947
|
0.00001
|
NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter)
|
rs749009273
|
0.00001
|
NM_004817.4(TJP2):c.2921G>A (p.Arg974Lys)
|
rs746031449
|
0.00001
|
NM_004817.4(TJP2):c.2954A>G (p.Asn985Ser)
|
rs750758555
|
0.00001
|
NM_004817.4(TJP2):c.3012A>G (p.Glu1004=)
|
rs763305813
|
0.00001
|
NM_004817.4(TJP2):c.303A>G (p.Ala101=)
|
rs756808587
|
0.00001
|
NM_004817.4(TJP2):c.3061G>A (p.Ala1021Thr)
|
rs765214333
|
0.00001
|
NM_004817.4(TJP2):c.3076G>A (p.Glu1026Lys)
|
rs201202451
|
0.00001
|
NM_004817.4(TJP2):c.322A>T (p.Ser108Cys)
|
rs727504668
|
0.00001
|
NM_004817.4(TJP2):c.3322-2A>C
|
rs41277909
|
0.00001
|
NM_004817.4(TJP2):c.3366C>T (p.Ile1122=)
|
rs1036854780
|
0.00001
|
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=)
|
rs745427593
|
0.00001
|
NM_004817.4(TJP2):c.343-4A>G
|
rs779815648
|
0.00001
|
NM_004817.4(TJP2):c.3503A>G (p.Gln1168Arg)
|
rs759725360
|
0.00001
|
NM_004817.4(TJP2):c.3522C>G (p.Ser1174=)
|
rs761272308
|
0.00001
|
NM_004817.4(TJP2):c.3528C>T (p.Arg1176=)
|
rs147675640
|
0.00001
|
NM_004817.4(TJP2):c.3536A>C (p.Tyr1179Ser)
|
rs765987734
|
0.00001
|
NM_004817.4(TJP2):c.356C>A (p.Pro119His)
|
rs1381055371
|
0.00001
|
NM_004817.4(TJP2):c.413G>A (p.Arg138Gln)
|
rs764394462
|
0.00001
|
NM_004817.4(TJP2):c.499C>T (p.Arg167Cys)
|
rs967520708
|
0.00001
|
NM_004817.4(TJP2):c.49G>C (p.Gly17Arg)
|
rs1824901947
|
0.00001
|
NM_004817.4(TJP2):c.568G>A (p.Asp190Asn)
|
rs886043873
|
0.00001
|
NM_004817.4(TJP2):c.607C>T (p.Arg203Trp)
|
rs781732191
|
0.00001
|
NM_004817.4(TJP2):c.608G>A (p.Arg203Gln)
|
rs1355001907
|
0.00001
|
NM_004817.4(TJP2):c.61-7267A>G
|
rs896087137
|
0.00001
|
NM_004817.4(TJP2):c.61-7308C>A
|
rs1240349749
|
0.00001
|
NM_004817.4(TJP2):c.629C>G (p.Ala210Gly)
|
rs773909292
|
0.00001
|
NM_004817.4(TJP2):c.812G>A (p.Arg271His)
|
rs377314831
|
0.00001
|
NM_004817.4(TJP2):c.853C>T (p.Arg285Cys)
|
rs546327568
|
0.00001
|
NM_004817.4(TJP2):c.85T>C (p.Trp29Arg)
|
rs530470555
|
0.00001
|
NM_004817.4(TJP2):c.896C>A (p.Pro299His)
|
rs545729848
|
0.00001
|
NM_004817.4(TJP2):c.952+3A>G
|
rs1189567891
|
0.00001
|
NM_004817.4(TJP2):c.966G>T (p.Arg322=)
|
rs199857597
|
0.00001
|
NM_004817.4(TJP2):c.984C>T (p.Phe328=)
|
rs1829255885
|
0.00001
|
9q21.11 duplication
|
|
|
GRCh37/hg19 9q21.11(chr9:71741320-71746253)x0
|
|
|
GRCh37/hg19 9q21.11(chr9:71806129-71893866)x1
|
|
|
NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup
|
|
|
NC_000009.11:g.71705804_71974823invdup
|
|
|
NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs)
|
|
|
NM_004817.4(TJP2):c.*6T>C
|
rs1563967143
|
|
NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter)
|
rs1182781290
|
|
NM_004817.4(TJP2):c.1001G>A (p.Arg334Gln)
|
|
|
NM_004817.4(TJP2):c.1001del (p.Arg334fs)
|
rs786205659
|
|
NM_004817.4(TJP2):c.1022A>G (p.Asp341Gly)
|
|
|
NM_004817.4(TJP2):c.1035C>A (p.His345Gln)
|
rs144213955
|
|
NM_004817.4(TJP2):c.1052T>A (p.Leu351His)
|
rs1563931638
|
|
NM_004817.4(TJP2):c.1056+11G>T
|
rs373150693
|
|
NM_004817.4(TJP2):c.1056+9A>C
|
|
|
NM_004817.4(TJP2):c.1057-9T>A
|
rs1554662271
|
|
NM_004817.4(TJP2):c.1090A>G (p.Thr364Ala)
|
|
|
NM_004817.4(TJP2):c.1139T>C (p.Val380Ala)
|
|
|
NM_004817.4(TJP2):c.1141G>A (p.Val381Met)
|
rs2133314809
|
|
NM_004817.4(TJP2):c.1142T>A (p.Val381Glu)
|
rs1406324831
|
|
NM_004817.4(TJP2):c.115-10T>C
|
rs1563919728
|
|
NM_004817.4(TJP2):c.115-1G>A
|
rs1588080680
|
|
NM_004817.4(TJP2):c.115-2A>C
|
rs1588080674
|
|
NM_004817.4(TJP2):c.115-304G>A
|
rs79422901
|
|
NM_004817.4(TJP2):c.115-7T>C
|
rs1563919731
|
|
NM_004817.4(TJP2):c.1157del (p.Gln386fs)
|
rs2133314949
|
|
NM_004817.4(TJP2):c.1180T>A (p.Ser394Thr)
|
|
|
NM_004817.4(TJP2):c.1202A>G (p.Glu401Gly)
|
rs1057515614
|
|
NM_004817.4(TJP2):c.1211-16T>G
|
|
|
NM_004817.4(TJP2):c.1211-18T>A
|
|
|
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)
|
rs727504461
|
|
NM_004817.4(TJP2):c.122A>G (p.Lys41Arg)
|
rs1554659207
|
|
NM_004817.4(TJP2):c.1234C>T (p.Arg412Ter)
|
rs777460754
|
|
NM_004817.4(TJP2):c.1243del (p.Ser415fs)
|
rs1057518679
|
|
NM_004817.4(TJP2):c.1265A>G (p.Gln422Arg)
|
rs144928091
|
|
NM_004817.4(TJP2):c.1273GATTAT[1] (p.425DY[1])
|
rs1233134698
|
|
NM_004817.4(TJP2):c.1290_1292del (p.Ser432del)
|
rs780493380
|
|
NM_004817.4(TJP2):c.1292C>G (p.Ser431Ter)
|
rs1251192873
|
|
NM_004817.4(TJP2):c.1319G>C (p.Ser440Thr)
|
|
|
NM_004817.4(TJP2):c.1320-18G>A
|
|
|
NM_004817.4(TJP2):c.1320-1G>A
|
|
|
NM_004817.4(TJP2):c.1337C>A (p.Pro446Gln)
|
rs150193775
|
|
NM_004817.4(TJP2):c.1337C>T (p.Pro446Leu)
|
|
|
NM_004817.4(TJP2):c.1338G>A (p.Pro446=)
|
|
|
NM_004817.4(TJP2):c.1360G>A (p.Ala454Thr)
|
|
|
NM_004817.4(TJP2):c.1361del (p.Ala454fs)
|
rs587777520
|
|
NM_004817.4(TJP2):c.1362G>A (p.Ala454=)
|
|
|
NM_004817.4(TJP2):c.1367C>A (p.Pro456His)
|
|
|
NM_004817.4(TJP2):c.1393A>G (p.Ile465Val)
|
|
|
NM_004817.4(TJP2):c.142G>A (p.Val48Met)
|
rs769217430
|
|
NM_004817.4(TJP2):c.1430C>A (p.Pro477His)
|
rs1310545927
|
|
NM_004817.4(TJP2):c.1433G>C (p.Arg478Thr)
|
rs760992953
|
|
NM_004817.4(TJP2):c.1438_1454del (p.Gln480fs)
|
rs1829487527
|
|
NM_004817.4(TJP2):c.1443G>A (p.Glu481=)
|
|
|
NM_004817.4(TJP2):c.1444del (p.Asp482fs)
|
rs727503479
|
|
NM_004817.4(TJP2):c.1451del (p.Pro484fs)
|
rs1554662952
|
|
NM_004817.4(TJP2):c.1453+16C>T
|
|
|
NM_004817.4(TJP2):c.1453+17A>C
|
|
|
NM_004817.4(TJP2):c.1454-6C>T
|
rs1554663268
|
|
NM_004817.4(TJP2):c.1462C>A (p.Pro488Thr)
|
rs1554663279
|
|
NM_004817.4(TJP2):c.147C>T (p.Ser49=)
|
|
|
NM_004817.4(TJP2):c.1499C>T (p.Pro500Leu)
|
|
|
NM_004817.4(TJP2):c.1501G>A (p.Glu501Lys)
|
rs747100913
|
|
NM_004817.4(TJP2):c.1517_1520+8del
|
|
|
NM_004817.4(TJP2):c.1520+12C>T
|
|
|
NM_004817.4(TJP2):c.1520+19C>G
|
|
|
NM_004817.4(TJP2):c.1520+21_1520+22del
|
|
|
NM_004817.4(TJP2):c.1520+6T>C
|
rs886044597
|
|
NM_004817.4(TJP2):c.1521-2_1521-1insTAA
|
|
|
NM_004817.4(TJP2):c.1521-7A>C
|
rs373242928
|
|
NM_004817.4(TJP2):c.1521-7A>G
|
rs373242928
|
|
NM_004817.4(TJP2):c.1567C>G (p.Leu523Val)
|
rs2133343173
|
|
NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser)
|
rs1588117076
|
|
NM_004817.4(TJP2):c.1585A>G (p.Asn529Asp)
|
rs1016967366
|
|
NM_004817.4(TJP2):c.1624A>T (p.Thr542Ser)
|
|
|
NM_004817.4(TJP2):c.1625C>T (p.Thr542Ile)
|
|
|
NM_004817.4(TJP2):c.1628C>T (p.Ser543Leu)
|
|
|
NM_004817.4(TJP2):c.1671+18_1671+19del
|
rs1057515615
|
|
NM_004817.4(TJP2):c.1671+8C>T
|
rs1563937977
|
|
NM_004817.4(TJP2):c.1672-17T>G
|
|
|
NM_004817.4(TJP2):c.1672-183C>G
|
rs12551566
|
|
NM_004817.4(TJP2):c.1672-1G>A
|
rs1588127136
|
|
NM_004817.4(TJP2):c.1672-27del
|
rs202100183
|
|
NM_004817.4(TJP2):c.1672-28_1672-27dup
|
rs202100183
|
|
NM_004817.4(TJP2):c.1672-67_1672-66dup
|
rs202132958
|
|
NM_004817.4(TJP2):c.1672-68TTTC[6]
|
rs548512481
|
|
NM_004817.4(TJP2):c.1672-68TTTC[8]
|
rs548512481
|
|
NM_004817.4(TJP2):c.1672-68TTTC[9]
|
rs548512481
|
|
NM_004817.4(TJP2):c.1673T>C (p.Val558Ala)
|
|
|
NM_004817.4(TJP2):c.1697T>A (p.Leu566Ter)
|
rs886042381
|
|
NM_004817.4(TJP2):c.1710T>C (p.Asp570=)
|
|
|
NM_004817.4(TJP2):c.1713C>A (p.Ala571=)
|
rs376280878
|
|
NM_004817.4(TJP2):c.1735C>T (p.Pro579Ser)
|
|
|
NM_004817.4(TJP2):c.1765C>T (p.Gln589Ter)
|
|
|
NM_004817.4(TJP2):c.1776C>T (p.Ala592=)
|
|
|
NM_004817.4(TJP2):c.1777G>T (p.Asp593Tyr)
|
|
|
NM_004817.4(TJP2):c.1780+1G>T
|
rs1554664852
|
|
NM_004817.4(TJP2):c.1780+303C>T
|
rs10867187
|
|
NM_004817.4(TJP2):c.1780+6C>A
|
|
|
NM_004817.4(TJP2):c.1781-19C>T
|
|
|
NM_004817.4(TJP2):c.1794C>T (p.Ile598=)
|
|
|
NM_004817.4(TJP2):c.1820T>G (p.Phe607Cys)
|
|
|
NM_004817.4(TJP2):c.1825A>G (p.Ile609Val)
|
|
|
NM_004817.4(TJP2):c.1855A>G (p.Thr619Ala)
|
|
|
NM_004817.4(TJP2):c.1880del (p.Arg627fs)
|
|
|
NM_004817.4(TJP2):c.1885G>A (p.Glu629Lys)
|
rs1563945390
|
|
NM_004817.4(TJP2):c.1885dup (p.Glu629fs)
|
rs1830170589
|
|
NM_004817.4(TJP2):c.1886_1900del (p.Glu629_Val633del)
|
rs1554665383
|
|
NM_004817.4(TJP2):c.1909C>T (p.Leu637=)
|
rs768326584
|
|
NM_004817.4(TJP2):c.1923G>C (p.Lys641Asn)
|
rs530082663
|
|
NM_004817.4(TJP2):c.1929C>T (p.Gly643=)
|
|
|
NM_004817.4(TJP2):c.1949T>G (p.Ile650Ser)
|
|
|
NM_004817.4(TJP2):c.194T>C (p.Val65Ala)
|
|
|
NM_004817.4(TJP2):c.1991+12C>T
|
|
|
NM_004817.4(TJP2):c.1992-15G>A
|
|
|
NM_004817.4(TJP2):c.1992-16del
|
|
|
NM_004817.4(TJP2):c.1992-2A>G
|
rs587777521
|
|
NM_004817.4(TJP2):c.2016A>G (p.Gln672=)
|
|
|
NM_004817.4(TJP2):c.2020G>T (p.Ala674Ser)
|
rs199605381
|
|
NM_004817.4(TJP2):c.2027G>C (p.Arg676Thr)
|
|
|
NM_004817.4(TJP2):c.2036C>G (p.Ala679Gly)
|
|
|
NM_004817.4(TJP2):c.2051A>G (p.Asp684Gly)
|
|
|
NM_004817.4(TJP2):c.205G>A (p.Val69Met)
|
|
|
NM_004817.4(TJP2):c.2065C>T (p.Arg689Cys)
|
|
|
NM_004817.4(TJP2):c.2071C>T (p.Gln691Ter)
|
|
|
NM_004817.4(TJP2):c.2083G>T (p.Val695Leu)
|
|
|
NM_004817.4(TJP2):c.2115C>A (p.Asp705Glu)
|
rs2133388522
|
|
NM_004817.4(TJP2):c.2136C>G (p.Val712=)
|
|
|
NM_004817.4(TJP2):c.2144A>C (p.Lys715Thr)
|
|
|
NM_004817.4(TJP2):c.2179G>C (p.Ala727Pro)
|
rs1563946936
|
|
NM_004817.4(TJP2):c.2180-275_2180-274insGTAGGAGGATCGCTTGAG
|
rs11272756
|
|
NM_004817.4(TJP2):c.2180-5T>G
|
rs1588135086
|
|
NM_004817.4(TJP2):c.2181T>C (p.Ala727=)
|
|
|
NM_004817.4(TJP2):c.2188A>T (p.Lys730Ter)
|
|
|
NM_004817.4(TJP2):c.2208C>T (p.Phe736=)
|
|
|
NM_004817.4(TJP2):c.220C>T (p.Pro74Ser)
|
|
|
NM_004817.4(TJP2):c.2217A>G (p.Ile739Met)
|
|
|
NM_004817.4(TJP2):c.2230A>G (p.Met744Val)
|
rs749647498
|
|
NM_004817.4(TJP2):c.2275+24del
|
rs749189119
|
|
NM_004817.4(TJP2):c.2275+24dup
|
rs749189119
|
|
NM_004817.4(TJP2):c.2276-20T>G
|
|
|
NM_004817.4(TJP2):c.229G>A (p.Gly77Arg)
|
rs1563919994
|
|
NM_004817.4(TJP2):c.2323C>T (p.Arg775Trp)
|
|
|
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer)
|
rs1830379007
|
|
NM_004817.4(TJP2):c.2345T>C (p.Ile782Thr)
|
|
|
NM_004817.4(TJP2):c.2353C>T (p.Gln785Ter)
|
rs1563948951
|
|
NM_004817.4(TJP2):c.2355+14T>A
|
|
|
NM_004817.4(TJP2):c.2355+1G>T
|
rs1830381101
|
|
NM_004817.4(TJP2):c.2356-115AAAC[3]
|
rs56355642
|
|
NM_004817.4(TJP2):c.2363A>T (p.His788Leu)
|
|
|
NM_004817.4(TJP2):c.236T>G (p.Leu79Arg)
|
rs1588081022
|
|
NM_004817.4(TJP2):c.239+12C>G
|
|
|
NM_004817.4(TJP2):c.239+14del
|
rs764370644
|
|
NM_004817.4(TJP2):c.239+1G>A
|
rs749237210
|
|
NM_004817.4(TJP2):c.2395G>A (p.Asp799Asn)
|
|
|
NM_004817.4(TJP2):c.2415G>T (p.Gln805His)
|
|
|
NM_004817.4(TJP2):c.2426T>C (p.Ile809Thr)
|
|
|
NM_004817.4(TJP2):c.2434T>G (p.Phe812Val)
|
|
|
NM_004817.4(TJP2):c.2438dup (p.Asn814fs)
|
rs776869985
|
|
NM_004817.4(TJP2):c.2450C>G (p.Ser817Cys)
|
rs1554666481
|
|
NM_004817.4(TJP2):c.2451C>T (p.Ser817=)
|
|
|
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter)
|
rs746830415
|
|
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter)
|
rs1830481830
|
|
NM_004817.4(TJP2):c.2546C>G (p.Thr849Arg)
|
rs763461861
|
|
NM_004817.4(TJP2):c.2549G>T (p.Cys850Phe)
|
|
|
NM_004817.4(TJP2):c.2553A>C (p.Ala851=)
|
rs763701380
|
|
NM_004817.4(TJP2):c.2566+59G>A
|
rs7035000
|
|
NM_004817.4(TJP2):c.2567-4A>G
|
rs371917205
|
|
NM_004817.4(TJP2):c.2572A>G (p.Ile858Val)
|
|
|
NM_004817.4(TJP2):c.2584T>C (p.Ser862Pro)
|
|
|
NM_004817.4(TJP2):c.258C>G (p.Val86=)
|
|
|
NM_004817.4(TJP2):c.258C>T (p.Val86=)
|
rs530810462
|
|
NM_004817.4(TJP2):c.2632C>T (p.Gln878Ter)
|
rs1554667607
|
|
NM_004817.4(TJP2):c.2645C>A (p.Ala882Glu)
|
rs1014295697
|
|
NM_004817.4(TJP2):c.2645C>T (p.Ala882Val)
|
rs1014295697
|
|
NM_004817.4(TJP2):c.2645_2646dup (p.Val883fs)
|
rs2133456150
|
|
NM_004817.4(TJP2):c.2653G>A (p.Val885Ile)
|
|
|
NM_004817.4(TJP2):c.2667+3A>G
|
|
|
NM_004817.4(TJP2):c.2668-111C>A
|
rs41308892
|
|
NM_004817.4(TJP2):c.2668-12A>G
|
|
|
NM_004817.4(TJP2):c.2668-15C>T
|
|
|
NM_004817.4(TJP2):c.2668-1G>T
|
rs864321695
|
|
NM_004817.4(TJP2):c.2706C>G (p.Ser902=)
|
|
|
NM_004817.4(TJP2):c.2716G>A (p.Ala906Thr)
|
rs894332443
|
|
NM_004817.4(TJP2):c.2725G>A (p.Ala909Thr)
|
|
|
NM_004817.4(TJP2):c.274C>G (p.Pro92Ala)
|
rs1563921627
|
|
NM_004817.4(TJP2):c.277A>G (p.Met93Val)
|
|
|
NM_004817.4(TJP2):c.2802C>A (p.Asp934Glu)
|
|
|
NM_004817.4(TJP2):c.2819C>T (p.Pro940Leu)
|
rs199852211
|
|
NM_004817.4(TJP2):c.2823C>T (p.Ala941=)
|
|
|
NM_004817.4(TJP2):c.2845A>G (p.Ile949Val)
|
|
|
NM_004817.4(TJP2):c.2855C>G (p.Ser952Cys)
|
|
|
NM_004817.4(TJP2):c.2865G>A (p.Pro955=)
|
rs727503480
|
|
NM_004817.4(TJP2):c.2866G>C (p.Val956Leu)
|
|
|
NM_004817.4(TJP2):c.2869C>T (p.Gln957Ter)
|
|
|
NM_004817.4(TJP2):c.2874C>T (p.His958=)
|
|
|
NM_004817.4(TJP2):c.2880+105G>A
|
rs536733607
|
|
NM_004817.4(TJP2):c.2880+15G>T
|
|
|
NM_004817.4(TJP2):c.2880+3GAGGC[3]
|
|
|
NM_004817.4(TJP2):c.2880+4A>G
|
rs727505327
|
|
NM_004817.4(TJP2):c.2880+5G>A
|
rs1563959639
|
|
NM_004817.4(TJP2):c.2880+80G>T
|
rs769729938
|
|
NM_004817.4(TJP2):c.2881-2A>G
|
|
|
NM_004817.4(TJP2):c.2884A>C (p.Ile962Leu)
|
|
|
NM_004817.4(TJP2):c.2885del (p.Ile962fs)
|
|
|
NM_004817.4(TJP2):c.288G>A (p.Val96=)
|
rs2133251607
|
|
NM_004817.4(TJP2):c.2948G>A (p.Arg983Lys)
|
rs762069397
|
|
NM_004817.4(TJP2):c.2962C>T (p.Pro988Ser)
|
rs752183947
|
|
NM_004817.4(TJP2):c.2963C>T (p.Pro988Leu)
|
rs886043808
|
|
NM_004817.4(TJP2):c.2979A>T (p.Pro993=)
|
|
|
NM_004817.4(TJP2):c.2984C>T (p.Pro995Leu)
|
|
|
NM_004817.4(TJP2):c.2991+17_2991+30del
|
|
|
NM_004817.4(TJP2):c.2991+18_2991+31del
|
|
|
NM_004817.4(TJP2):c.2991+1_2991+2dup
|
rs2133478687
|
|
NM_004817.4(TJP2):c.2991+20A>G
|
|
|
NM_004817.4(TJP2):c.2992-5C>T
|
|
|
NM_004817.4(TJP2):c.3067_3068delinsTT (p.Ala1023Phe)
|
rs1554668727
|
|
NM_004817.4(TJP2):c.3104A>C (p.Tyr1035Ser)
|
rs1220682051
|
|
NM_004817.4(TJP2):c.3138del (p.Arg1047fs)
|
rs1563962994
|
|
NM_004817.4(TJP2):c.3140G>A (p.Arg1047Gln)
|
rs191327525
|
|
NM_004817.4(TJP2):c.3141G>T (p.Arg1047=)
|
|
|
NM_004817.4(TJP2):c.3152A>T (p.Lys1051Met)
|
rs1284322615
|
|
NM_004817.4(TJP2):c.3182G>T (p.Gly1061Val)
|
|
|
NM_004817.4(TJP2):c.3215A>G (p.Asp1072Gly)
|
|
|
NM_004817.4(TJP2):c.3235C>T (p.Leu1079=)
|
|
|
NM_004817.4(TJP2):c.3238G>A (p.Gly1080Ser)
|
|
|
NM_004817.4(TJP2):c.3243A>T (p.Lys1081Asn)
|
|
|
NM_004817.4(TJP2):c.3277A>G (p.Arg1093Gly)
|
|
|
NM_004817.4(TJP2):c.3290T>G (p.Met1097Arg)
|
|
|
NM_004817.4(TJP2):c.3296A>C (p.Glu1099Ala)
|
|
|
NM_004817.4(TJP2):c.3321+162C>T
|
rs2282334
|
|
NM_004817.4(TJP2):c.3325G>A (p.Glu1109Lys)
|
rs1225374015
|
|
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter)
|
rs1225374015
|
|
NM_004817.4(TJP2):c.3327A>T (p.Glu1109Asp)
|
|
|
NM_004817.4(TJP2):c.333C>T (p.Val111=)
|
rs1428978435
|
|
NM_004817.4(TJP2):c.3376_3387del (p.Lys1126_Pro1129del)
|
rs1563965205
|
|
NM_004817.4(TJP2):c.3393G>A (p.Thr1131=)
|
|
|
NM_004817.4(TJP2):c.3404C>T (p.Thr1135Met)
|
|
|
NM_004817.4(TJP2):c.3408-12T>A
|
|
|
NM_004817.4(TJP2):c.3408-17C>T
|
|
|
NM_004817.4(TJP2):c.3408-6del
|
rs778863371
|
|
NM_004817.4(TJP2):c.3408-6dup
|
rs778863371
|
|
NM_004817.4(TJP2):c.3415C>A (p.Pro1139Thr)
|
|
|
NM_004817.4(TJP2):c.3415C>T (p.Pro1139Ser)
|
rs371868714
|
|
NM_004817.4(TJP2):c.342+16G>A
|
|
|
NM_004817.4(TJP2):c.3423G>A (p.Glu1141=)
|
|
|
NM_004817.4(TJP2):c.343-28G>A
|
rs41305541
|
|
NM_004817.4(TJP2):c.3432A>G (p.Lys1144=)
|
rs886044296
|
|
NM_004817.4(TJP2):c.3450T>C (p.Tyr1150=)
|
rs779575464
|
|
NM_004817.4(TJP2):c.3463G>C (p.Gly1155Arg)
|
rs200425899
|
|
NM_004817.4(TJP2):c.3471T>C (p.Tyr1157=)
|
|
|
NM_004817.4(TJP2):c.3483C>A (p.Ala1161=)
|
|
|
NM_004817.4(TJP2):c.3483C>T (p.Ala1161=)
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rs199597127
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NM_004817.4(TJP2):c.3484GAG[3] (p.Glu1165del)
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rs746080083
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NM_004817.4(TJP2):c.3499C>T (p.Arg1167Cys)
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NM_004817.4(TJP2):c.3500G>A (p.Arg1167His)
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rs370985421
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NM_004817.4(TJP2):c.3527G>A (p.Arg1176His)
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NM_004817.4(TJP2):c.3528C>G (p.Arg1176=)
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NM_004817.4(TJP2):c.3529G>A (p.Gly1177Ser)
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NM_004817.4(TJP2):c.3549C>T (p.Ala1183=)
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NM_004817.4(TJP2):c.3551G>A (p.Arg1184Gln)
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NM_004817.4(TJP2):c.3556C>G (p.Arg1186Gly)
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rs112109886
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NM_004817.4(TJP2):c.355C>A (p.Pro119Thr)
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NM_004817.4(TJP2):c.356C>T (p.Pro119Leu)
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rs1381055371
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NM_004817.4(TJP2):c.357C>T (p.Pro119=)
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NM_004817.4(TJP2):c.377C>T (p.Ala126Val)
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NM_004817.4(TJP2):c.395C>G (p.Pro132Arg)
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rs141496493
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NM_004817.4(TJP2):c.409G>A (p.Asp137Asn)
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NM_004817.4(TJP2):c.410A>T (p.Asp137Val)
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rs886043413
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NM_004817.4(TJP2):c.412C>T (p.Arg138Trp)
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NM_004817.4(TJP2):c.432C>G (p.Asp144Glu)
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NM_004817.4(TJP2):c.440A>G (p.Asp147Gly)
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rs751419583
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NM_004817.4(TJP2):c.454C>T (p.Arg152Trp)
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NM_004817.4(TJP2):c.464_473del (p.Gly154_Tyr155insTer)
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rs2133270267
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NM_004817.4(TJP2):c.474G>A (p.Arg158=)
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rs1554660381
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NM_004817.4(TJP2):c.476G>T (p.Ser159Ile)
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NM_004817.4(TJP2):c.490C>T (p.His164Tyr)
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NM_004817.4(TJP2):c.494G>C (p.Gly165Ala)
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NM_004817.4(TJP2):c.498dup (p.Arg167fs)
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rs781334233
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NM_004817.4(TJP2):c.4_11dup (p.Gly5fs)
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NM_004817.4(TJP2):c.520A>G (p.Ser174Gly)
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NM_004817.4(TJP2):c.547C>A (p.Arg183=)
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NM_004817.4(TJP2):c.551C>T (p.Ala184Val)
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NM_004817.4(TJP2):c.559C>G (p.Arg187Gly)
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NM_004817.4(TJP2):c.559_565del (p.Arg187fs)
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NM_004817.4(TJP2):c.55C>T (p.Leu19Phe)
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NM_004817.4(TJP2):c.566G>A (p.Arg189Gln)
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NM_004817.4(TJP2):c.568G>T (p.Asp190Tyr)
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NM_004817.4(TJP2):c.570_574dup (p.Ser192fs)
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rs886041948
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NM_004817.4(TJP2):c.577C>A (p.Arg193=)
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rs200390074
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NM_004817.4(TJP2):c.578G>C (p.Arg193Pro)
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NM_004817.4(TJP2):c.579_590del (p.Asp194_Arg197del)
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NM_004817.4(TJP2):c.590_601del (p.Arg197_Ser200del)
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rs749616153
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NM_004817.4(TJP2):c.599G>T (p.Ser200Ile)
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rs373944275
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NM_004817.4(TJP2):c.60+39CGTGAG[3]
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rs59568063
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NM_004817.4(TJP2):c.60+7G>C
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NM_004817.4(TJP2):c.61-7279del
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rs1452573962
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NM_004817.4(TJP2):c.61-7359A>T
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rs1563906272
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NM_004817.4(TJP2):c.61-7391A>C
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rs1563906183
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NM_004817.4(TJP2):c.616G>T (p.Asp206Tyr)
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NM_004817.4(TJP2):c.619C>T (p.Gln207Ter)
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NM_004817.4(TJP2):c.629C>T (p.Ala210Val)
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NM_004817.4(TJP2):c.637C>T (p.Arg213Ter)
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NM_004817.4(TJP2):c.638G>A (p.Arg213Gln)
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rs775377668
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NM_004817.4(TJP2):c.639A>C (p.Arg213=)
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NM_004817.4(TJP2):c.643C>T (p.Arg215Cys)
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NM_004817.4(TJP2):c.648C>T (p.Ser216=)
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NM_004817.4(TJP2):c.658A>C (p.Ser220Arg)
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NM_004817.4(TJP2):c.659G>A (p.Ser220Asn)
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NM_004817.4(TJP2):c.659G>T (p.Ser220Ile)
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rs752106855
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NM_004817.4(TJP2):c.673C>A (p.Leu225Met)
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NM_004817.4(TJP2):c.679C>T (p.His227Tyr)
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NM_004817.4(TJP2):c.699G>A (p.Arg233=)
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NM_004817.4(TJP2):c.699GGACCG[3] (p.234DR[4])
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rs778482810
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NM_004817.4(TJP2):c.716G>A (p.Arg239His)
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NM_004817.4(TJP2):c.720C>A (p.Ser240Arg)
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rs1828820699
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NM_004817.4(TJP2):c.720C>G (p.Ser240Arg)
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NM_004817.4(TJP2):c.721C>T (p.Arg241Cys)
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NM_004817.4(TJP2):c.723C>T (p.Arg241=)
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NM_004817.4(TJP2):c.745_746delinsAT (p.Tyr249Ile)
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rs797044757
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NM_004817.4(TJP2):c.757T>C (p.Tyr253His)
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NM_004817.4(TJP2):c.763C>T (p.Arg255Trp)
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NM_004817.4(TJP2):c.764G>A (p.Arg255Gln)
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NM_004817.4(TJP2):c.766_769del (p.Ala256fs)
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rs587777518
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NM_004817.4(TJP2):c.766del (p.Ala256fs)
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NM_004817.4(TJP2):c.782A>G (p.Tyr261Cys)
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NM_004817.4(TJP2):c.782del (p.Tyr261fs)
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rs771690686
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NM_004817.4(TJP2):c.79C>G (p.Leu27Val)
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NM_004817.4(TJP2):c.801G>A (p.Pro267=)
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NM_004817.4(TJP2):c.813_814del (p.Ala273fs)
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rs1554660803
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NM_004817.4(TJP2):c.817del (p.Ala273fs)
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rs864321697
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NM_004817.4(TJP2):c.819C>T (p.Ala273=)
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NM_004817.4(TJP2):c.81G>A (p.Leu27=)
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NM_004817.4(TJP2):c.823C>T (p.His275Tyr)
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NM_004817.4(TJP2):c.825C>T (p.His275=)
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NM_004817.4(TJP2):c.838C>T (p.Arg280Trp)
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NM_004817.4(TJP2):c.839G>T (p.Arg280Leu)
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rs1354655431
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NM_004817.4(TJP2):c.849A>C (p.Arg283=)
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rs1828839061
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NM_004817.4(TJP2):c.84dup (p.Trp29fs)
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rs1563915664
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NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3])
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rs760152519
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NM_004817.4(TJP2):c.885del (p.Ser296fs)
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rs587777519
|
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NM_004817.4(TJP2):c.894G>C (p.Glu298Asp)
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|
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NM_004817.4(TJP2):c.897T>A (p.Pro299=)
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rs1563926830
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NM_004817.4(TJP2):c.899G>A (p.Arg300Lys)
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rs762140391
|
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NM_004817.4(TJP2):c.939C>T (p.Ser313=)
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NM_004817.4(TJP2):c.941G>C (p.Arg314Thr)
|
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NM_004817.4(TJP2):c.945G>A (p.Ala315=)
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NM_004817.4(TJP2):c.945G>T (p.Ala315=)
|
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NM_004817.4(TJP2):c.952+1_952+732del
|
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NM_004817.4(TJP2):c.952+74del
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rs113816166
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NM_004817.4(TJP2):c.953-175T>G
|
rs75334488
|
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NM_004817.4(TJP2):c.953-18_953-16delinsATCTCCTAGAGTATGTTTGTCTAGGAGACAAAGTATATACTAGAGTATA
|
rs759354372
|
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NM_004817.4(TJP2):c.953-1G>A
|
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NM_004817.4(TJP2):c.953-9G>T
|
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